A 2-year-old baby with Downs syndrome, cryptorchidism and testicular tumour

Seminomas are rare germ cell tumours. It occurs usually in men aged over 50 years. Seminomas differ genetically and clinically from germ cell tumours. They have a late age of onset and rarely metastasise. The incidence of testicular carcinoma (seminoma) in patients of Down syndrome has recently been emphasised. One of the predisposing factors for seminoma is undescended testis which not only results in spermatogenic arrest but also in carcinoma in situ. This triad of abnormalities that is cryptorchidism, oligozoospermia and testicular cancer is known as testicular dysgenesis syndrome (TDS). Since there is an increased incidence of tumourogenesis in Down syndrome cases the cryptorchid condition may result in an increased risk for testicular carcinogenesis and its early onset and poor prognosis. Therefore all Down syndrome cases with cryptorchidism should be counselled to go in for surgical descent of testis at the earliest age and also to come for regular follow up for early detection for any foci of malignancy. This is the youngest testicular seminoma ever reported in human. This tumour occurred in a 2-year-old child and it is possible that Trisomy 21 may predispose to early onset of seminoma and such cases should be under regular follow up. Thus improved understanding and identification of various urogenital anomalies associated with Down syndrome will aid in better management of these cases. This case report and review of literature all suggest that Down syndrome is associated with an increased risk of development of seminoma and that too at an early age. This advocates a need for thorough gonadal examination in all cases of Down syndrome.